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Primary immunodeficiency or monogenic inflammatory bowel disease v2.521 TMEM173 Arina Puzriakova Phenotypes for gene: TMEM173 were changed from STING-associated vasculopathy, infantile-onset 615934; Type 1 interferonopathies; Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, FCL; Autoinflammatory Disorders to STING-associated vasculopathy, infantile-onset, OMIM:615934; Type 1 interferonopathies; Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC; Autoinflammatory Disorders
Primary immunodeficiency or monogenic inflammatory bowel disease v2.324 TMEM173 Eleanor Williams Classified gene: TMEM173 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.324 TMEM173 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.324 TMEM173 Eleanor Williams Gene: tmem173 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 TMEM173 Eleanor Williams Source Other was added to TMEM173.
Publications for gene TMEM173 were updated from 25029335; 25401470; 30705050; 29976662; 29491158; 29425920 to 25401470; 29425920; 25029335; 29491158; 29976662; 30705050
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 TMEM173 Eleanor Williams edited their review of gene: TMEM173: Added comment: The following PubMed IDs were added to entity TMEM173: 25029335;25401470. These publications have been associated with OMIM phenotype MIM#615934, which is listed for this entity, by the autoinflammation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.; Changed publications: 25029335, 25401470
Primary immunodeficiency or monogenic inflammatory bowel disease v2.37 TMEM173 Ellen McDonagh Added comment: Comment on publications: Additional evidence added to the publication list, provided by Abdelazeem Elhabyan. Comments from Abdelazeem Elhabyan: GenBank - https://www.ncbi.nlm.nih.gov/gene?term=(human%5BOrganism%5D)%20AND%20TMEM173%5BGene%20Name%5D) This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses.

Hypothesis:
This gene is involved in interferon 1 pathway which is directly related to viral innate immune response. Upregulation may be associated with a protective effect or autoinflammatory response with aggravating effect. This is to be determined by clinical trials.

Highest organ of expression is the lung in genbank (Pneumonia caused by corona) RPKM ,\mean is 37

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069765/

Extracellular vesicles released by virally infected cells(HSV) that carry STING can induce protective effect against viral replication in neighbouring non infected cells
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146713/

Virulent Poxviruses Inhibit DNA Sensing by Preventing STING Activation
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923072/
The gene is involved in acute pancreatitis in mice
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112120/
Primary immunodeficiency or monogenic inflammatory bowel disease v2.37 TMEM173 Ellen McDonagh Publications for gene: TMEM173 were set to 25029335; 25401470
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Louise Daugherty commented on gene: TMEM173: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Louise Daugherty edited their review of gene: TMEM173: Added comment: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Kimberly Gilmour reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 TMEM173 Tracy Briggs reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 TMEM173 Louise Daugherty Source NHS GMS was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 TMEM173 Louise Daugherty Source North West GLH was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 TMEM173 Louise Daugherty Source London North GLH was added to TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.54 TMEM173 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM173.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.54 TMEM173 Louise Daugherty commented on gene: TMEM173: Added new-gene-name tag, new approved HGNC gene symbol for TMEM173 is STING1
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty marked gene: TMEM173 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty classified TMEM173 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty edited their review of gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty edited their review of gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Eleanor Williams commented on gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty commented on gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Sophie Hambleton reviewed gene: TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty commented on TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty classified TMEM173 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty commented on TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty commented on TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty reviewed TMEM173
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TMEM173 Louise Daugherty Added gene to panel